MCID: ATR057
MIFTS: 52

Atrioventricular Block malady

Cardiovascular diseases category
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Summaries for Atrioventricular Block

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Disease Ontology:8 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.

MalaCards based summary: Atrioventricular Block, also known as av block, is related to sick sinus syndrome and ventricular septal defect. An important gene associated with Atrioventricular Block is SCN5A (sodium channel, voltage-gated, type V, alpha subunit), and among its related pathways are Potassium transporters inward current and HOP Signaling. The compounds flecainide and propafenone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related mouse phenotypes are embryogenesis and digestive/alimentary.

Wikipedia:65 An atrioventricular block (or AV block) involves the impairment of the conduction between the atria and... more...

Aliases & Classifications for Atrioventricular Block

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Sources:
8Disease Ontology, 22GTR, 44Novoseek, 62UMLS, 34MeSH
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Atrioventricular Block, Aliases & Descriptions:

Name: Atrioventricular Block 8 22 44 62
 
Av Block 8 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular diseases


External Ids:

Disease Ontology8 DOID:0050820
MeSH34 D054537

Related Diseases for Atrioventricular Block

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Diseases related to Atrioventricular Block via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1sick sinus syndrome31.6SCN5A
2ventricular septal defect31.3NKX2-5
3cardiogenic shock31.0PIK3C2A, NPPB
4familial restrictive cardiomyopathy30.8NPPB, DES
5myocardial infarction30.8NPPB, GATA4, PIK3C2A
6myopathy30.8DES, PIK3C2A, KCNH2, LMNA
7pericardial effusion30.7PIK3C2A
8muscular dystrophy30.7LMNA, PIK3C2A, DES
9long qt syndrome30.7KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
10dilated cardiomyopathy30.5DES, PIK3C2A, SCN5A, LMNA, NPPB
11hypokalemia30.4KCNH2, PIK3C2A
12congenital heart block30.1LMNA, SCN5A, KCNQ1, KCNE2
13first-degree atrioventricular block10.8
14second-degree atrioventricular block10.8
15third-degree atrioventricular block10.8
16myocarditis10.7
17inferior myocardial infarction10.6
18mobitz type ii atrioventricular block10.6
19sarcoidosis10.6
20cardiac sarcoidosis10.6
21acute myocarditis10.6
22syncope10.5
23tetrology of fallot10.5NKX2-5
24long qt syndrome 110.4KCNQ1
25hypertension10.4
26kearns-sayre syndrome10.4
27right bundle branch block10.4
28restrictive cardiomyopathy10.4
29neuroleptic malignant syndrome10.4PIK3C2A
30short qt syndrome 210.4KCNQ1
31holt-oram syndrome10.4TBX5
32endocarditis10.4
33acute myocardial infarction10.3
34rheumatic fever10.3
35congenitally corrected transposition of the great arteries10.3
36giant cell myocarditis10.3
37transposition of the great arteries10.3
38schizoaffective disorder10.3
39distal muscular dystrophy10.3DES, PIK3C2A
40calcinosis10.3LMNA, PIK3C2A
41limb-girdle muscular dystrophy10.2PIK3C2A, LMNA
42endocardial fibroelastosis10.2
43aortitis10.2
44hypertrophic cardiomyopathy10.2
45infective endocarditis10.2
46bronchogenic cyst10.2
47heterotaxy10.2
48left ventricular outflow tract obstruction10.2
49dysautonomia10.2
50jervell-lange nielsen syndrome10.2KCNQ1, KCNE1

Graphical network of the top 20 diseases related to Atrioventricular Block:



Diseases related to atrioventricular block

Symptoms for Atrioventricular Block

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Drugs & Therapeutics for Atrioventricular Block

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Drug clinical trials:

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Search NIH Clinical Center for Atrioventricular Block

Genetic Tests for Atrioventricular Block

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Genetic tests related to Atrioventricular Block:

id Genetic test Affiliating Genes
1 Atrioventricular Block22

Anatomical Context for Atrioventricular Block

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MalaCards organs/tissues related to Atrioventricular Block:

32
Heart, Testes, Brain, Retina, Lung, Tonsil

Animal Models for Atrioventricular Block or affiliated genes

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MGI Mouse Phenotypes related to Atrioventricular Block:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6GATA4, TBX5, NKX2-5, SCN5A, KCNH2
2MP:00053817.9KCNE1, KCNE2, KCNQ1, LMNA, GATA4
3MP:00028737.9KCNQ1, SCN5A, LMNA, NKX2-5, TBX5, GATA4
4MP:00053977.7PIK3C2A, KCNE1, KCNE2, LMNA, NKX2-5, GATA4
5MP:00107687.5DES, PIK3C2A, KCNH2, SCN5A, LMNA, NKX2-5
6MP:00053787.4PIK3C2A, KCNH2, KCNQ1, SCN5A, LMNA, NKX2-5
7MP:00053697.0NPPB, DES, KCNH2, KCNQ1, SCN5A, LMNA
8MP:00053856.5DES, KCNH2, KCNE1, KCNQ1, SCN5A, LMNA
9MP:00053766.2KCNE1, KCNH2, PIK3C2A, DES, KCNE2, KCNQ1

Publications for Atrioventricular Block

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Articles related to Atrioventricular Block:

(show top 50)    (show all 241)
idTitleAuthorsYear
1
Second-degree atrioventricular block. (25318341)
2014
2
Mobitz type II second-degree atrioventricular block during dobutamine stress echocardiography. True or false? (25080840)
2014
3
Left ventricular pacing in neonates and infants with isolated congenital complete or advanced atrioventricular block: short- and medium-term outcome. (25115169)
2014
4
First-degree atrioventricular block may not be that benign after all. (24695392)
2014
5
High-degree atrioventricular block in a child with acute myocarditis. (24940135)
2014
6
Intermittent Atrioventricular Block following Fingolimod Initiation. (25161784)
2014
7
Atrioventricular Block Precipitated by Isoproterenol. (25234696)
2014
8
Mobitz Type II Atrioventricular Block Followed by Remifentanil in a Patient with Severe Aortic Stenosis. (23662214)
2013
9
Profound first-degree atrioventricular block. (24057329)
2013
10
Third-degree atrioventricular block in an adult with a giant cardiac fibroma. (23547182)
2013
11
Syncope associated with documented paroxysmal atrioventricular block reproduced by adenosine 5' triphosphate injection. (24128810)
2013
12
Acquired Gerbode defect and third-degree atrioventricular block secondary to vehicular trauma in a dog. (24304841)
2013
13
Simultaneous pheochromocytoma and third-degree atrioventricular block in 2 dogs. (24102992)
2013
14
Significance of first-degree atrioventricular block in acute endocarditis. (23440164)
2013
15
Normalisation of left ventricular systolic function after change from VVI pacing to biventricular pacing in a child with congenital complete atrioventricular block, long-QT syndrome, and congenital muscular dystrophy: a 10-year follow-up. (23679959)
2013
16
Epigastric pain in a 63-year-old woman. Atrial flutter with 2:1 atrioventricular block; acute inferoposterior myocardial infarction. (24350531)
2013
17
Usefulness of cardiac magnetic resonance imaging in the diagnosis of cardiac myocarditis revealed by complete atrioventricular block. (23791597)
2013
18
Complete atrioventricular block in an adult with congenitally corrected transposition of the great arteries with interrupted inferior vena cava. (23798952)
2012
19
N-terminal pro-brain natriuretic peptide and electrocardiographic variables associated with increased risk of complete atrioventricular block and mortality in patients with acute inferior myocardial infarction. (23042311)
2012
20
Cardiac sarcoidosis presenting with complete atrioventricular block and sustained monomorphic ventricular tachycardia. (22977456)
2012
21
Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. (22899775)
2012
22
Conventional and biventricular pacing in patients with first-degree atrioventricular block. (22516061)
2012
23
Lacosamide-induced second-degree atrioventricular block in a patient with partial epilepsy. (21801173)
2011
24
Cardiac leiomyoma associated with advanced atrioventricular block in a young dog. (21303738)
2011
25
Clinical and angiographic findings of complete atrioventricular block in acute inferior myocardial infarction. (20372753)
2010
26
Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome. (20975234)
2010
27
Gene mutations associated with atrioventricular block complicated by long QT syndrome. (21088333)
2010
28
A case of spontaneous pneumothorax presenting with high-degree atrioventricular block. (19729170)
2009
29
Compensatory hemodynamic variations for cardiovascular stabilization in complete atrioventricular block before and after pacemaker implantation]. (19404032)
2009
30
A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. (19328042)
2009
31
Prevention of complete heart block in children of mothers with anti-SSA/Ro and anti-SSB/La autoantibodies: detection and treatment of first-degree atrioventricular block. (19584727)
2009
32
Plasma levels of B-type natriuretic peptide in children and adolescents with high degree atrioventricular block. (18485504)
2009
33
Gerbode type defect and third degree atrioventricular block in association with bacterial endocarditis in a dog. (19010115)
2008
34
Reversible exercise-induced advanced atrioventricular block due to cardiac sarcoidosis. (17199004)
2007
35
Case report: Concurrent congenital complete atrioventricular block, Meckel's diverticulum and cerebral palsy in a 19-year-old male. (17582526)
2007
36
Third degree atrioventricular block and accelerated idioventricular rhythm associated with a heart base chemodectoma in a syncopal Rottweiler. (18045349)
2007
37
Acute myocarditis associated with cardiac amyloidosis manifesting as transient complete atrioventricular block and slow ventricular tachycardia. (15964086)
2006
38
Relationship between basal thinning of the interventricular septum and atrioventricular block in patients with cardiac sarcoidosis. (15881282)
2005
39
Complete atrioventricular block in Becker muscular dystrophy. (15156213)
2004
40
Effect of cilostazol on the ventricular escape rate and neurohumoral factors in patients with third-degree atrioventricular block. (12684307)
2003
41
Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects. (12898247)
2003
42
Advanced atrioventricular block in a 39-year-old man with acute rheumatic fever. (9826853)
1998
43
Effect of aminophylline in patients with atropine-resistant late advanced atrioventricular block during acute inferior myocardial infarction. (9789698)
1998
44
Recovery from complete atrioventricular block caused by idiopathic giant cell myocarditis after corticosteroid therapy. (9583449)
1998
45
Supernormal conduction in a case of Mobitz type II atrioventricular block. (9533380)
1998
46
Incidence of cardiac sarcoidosis in Japanese patients with high-degree atrioventricular block. (9327691)
1997
47
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. (8371486)
1993
48
Functional dissociation of cellular activation as a mechanism of Mobitz type II atrioventricular block. (8462160)
1993
49
Significance of advanced atrioventricular block in acute inferior myocardial infarction--a study based on ventricular function and Holter monitoring. (2423464)
1986
50
Early and late atrioventricular block in acute inferior myocardial infarction. (6736451)
1984

Variations for Atrioventricular Block

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Clinvar genetic disease variations for Atrioventricular Block:

6
id Gene Name Type Significance SNP ID Assembly Location
1SCN5ANM_000335.4(SCN5A): c.4780G> A (p.Asp1594Asn)single nucleotide variantPathogenicrs137854607GRCh37Chr 3, 38595800: 38595800
2SCN5ANM_000335.4(SCN5A): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs137854608GRCh37Chr 3, 38651267: 38651267

Expression for genes affiliated with Atrioventricular Block

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Expression patterns in normal tissues for genes affiliated with Atrioventricular Block

Search GEO for disease gene expression data for Atrioventricular Block.

Pathways for genes affiliated with Atrioventricular Block

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Pathways related to Atrioventricular Block according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KCNE1, KCNH2
29.6GATA4, NKX2-5
3
Show member pathways
9.3GATA4, NKX2-5, LMNA
49.3NKX2-5, GATA4, NPPB
59.1NKX2-5, TBX5, GATA4
69.1SCN5A, KCNQ1, KCNH2
79.0KCNE1, KCNQ1, SCN5A
8
Show member pathways
9.0KCNQ1, KCNE1, KCNH2
98.9GATA4, TBX5, NKX2-5, SCN5A
10
Show member pathways
8.8NPPB, GATA4, TBX5, NKX2-5
118.6KCNH2, KCNE1, KCNE2, KCNQ1
128.1LMNA, KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A

Compounds for genes affiliated with Atrioventricular Block

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Compounds related to Atrioventricular Block according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1flecainide50 44 28 1113.3SCN5A, KCNH2
2propafenone28 44 50 1113.3KCNH2, SCN5A
3mexiletine50 44 1112.3SCN5A, KCNH2
4cisapride44 28 1112.2SCN5A, KCNH2
5metoprolol44 50 28 24 1114.2KCNH2, NPPB
6atenolol44 50 28 24 1114.0NPPB, KCNH2
7thallium4410.0PIK3C2A, NPPB
8amiodarone44 50 28 1113.0KCNH2, NPPB
9mibg449.9NPPB, PIK3C2A
10spironolactone44 61 28 50 1113.9NPPB, KCNH2
11phenytoin44 50 28 1112.8KCNH2, SCN5A, TSPO
12ptca449.8NPPB, PIK3C2A
13carvedilol44 50 28 1112.8KCNH2, NPPB
14clofilium44 2810.8KCNH2, KCNQ1
15gamma-hydroxybutyrate449.7TSPO, PIK3C2A
16bepridil44 28 1111.7KCNQ1, KCNH2
17valine449.7KCNH2, SCN5A, TSPO
18chromanol449.7KCNE1, KCNQ1
19indapamide44 1110.6KCNE1, KCNQ1
20chromanol 293b61 44 2811.6KCNE1, KCNQ1
21lysine449.6DES, KCNH2, SCN5A, NPPB
22ryanodine44 28 6111.5NPPB, GATA4, DES
23isoleucine449.5SCN5A, KCNQ1, KCNH2
24isoflurane50 44 1111.5TSPO, PIK3C2A
25katp449.4KCNQ1, KCNH2
26cocaine44 1110.3PIK3C2A, KCNH2, SCN5A, TSPO
27haloperidol44 50 28 2 1113.2NPPB, TSPO, KCNH2, PIK3C2A
28norepinephrine44 24 1111.1NPPB, TSPO, PIK3C2A, DES
29acetylcholine44 50 28 24 1113.1DES, PIK3C2A, TSPO, NPPB
30xe 991 dihydrochloride619.1KCNH2, KCNE1, KCNE2, KCNQ1
31e-4031 dihydrochloride619.1KCNQ1, KCNE2, KCNE1, KCNH2
32jnj 303619.1KCNQ1, KCNE2, KCNE1, KCNH2
33shk-dap22619.1KCNQ1, KCNE2, KCNE1, KCNH2
34ica 110381619.0KCNQ1, KCNE2, KCNE1, KCNH2
35doxorubicin44 50 1111.0DES, PIK3C2A, GATA4, NPPB
36glycogen44 2410.0DES, PIK3C2A, GATA4, NPPB
37isoproterenol44 119.9NPPB, KCNQ1, KCNH2, PIK3C2A
38progesterone44 28 61 24 1112.9DES, PIK3C2A, GATA4, NPPB
39nitric oxide44 24 1110.8NPPB, GATA4, NKX2-5, KCNE1, DES
40lipid448.8PIK3C2A, KCNH2, KCNE1, LMNA, NPPB
41retinoic acid44 249.8DES, KCNH2, LMNA, TBX5, GATA4
42creatinine448.6DES, PIK3C2A, KCNH2, LMNA, TSPO, NPPB
43epinephrine44 24 1110.5NPPB, KCNQ1, PIK3C2A
44potassium44 24 1110.3PIK3C2A, KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
45testosterone44 61 24 1111.3DES, PIK3C2A, KCNH2, TSPO, GATA4, NPPB
46steroid448.3DES, PIK3C2A, KCNH2, TSPO, GATA4, NPPB
47sodium44 249.0PIK3C2A, KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
48calcium44 50 24 1110.4DES, PIK3C2A, KCNH2, KCNQ1, SCN5A, LMNA
49serine447.3DES, KCNH2, KCNE1, KCNQ1, SCN5A, LMNA
50arginine447.1NPPB, DES, PIK3C2A, KCNH2, KCNE1, KCNQ1

GO Terms for genes affiliated with Atrioventricular Block

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Cellular components related to Atrioventricular Block according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:0423838.9SCN5A, KCNQ1, DES
2lysosomeGO:0057648.9KCNQ1, KCNE2, KCNE1
3cell surfaceGO:0099868.9KCNH2, KCNE1, KCNE2, SCN5A
4voltage-gated potassium channel complexGO:0080768.6KCNQ1, KCNE2, KCNE1, KCNH2

Biological processes related to Atrioventricular Block according to GeneCards/GeneDecks:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during action potentialGO:08601010.2KCNH2, SCN5A
2ventricular cardiac muscle cell developmentGO:05501510.1NKX2-5, LMNA
3bundle of His developmentGO:00316610.1NKX2-5, TBX5
4regulation of delayed rectifier potassium channel activityGO:190225910.1KCNE1, KCNE2
5positive regulation of sodium ion transportGO:01076510.0SCN5A, NKX2-5
6membrane repolarizationGO:08600910.0KCNE1, KCNE2
7cardiac muscle cell differentiationGO:0550079.9NKX2-5, TBX5
8cardiac muscle cell action potential involved in contractionGO:0860029.8KCNE1, KCNE2, SCN5A
9regulation of potassium ion transmembrane transportGO:19013799.8KCNH2, KCNE1, KCNE2
10regulation of cardiac muscle cell contractionGO:0860049.8SCN5A, GATA4
11ventricular cardiac muscle tissue developmentGO:0032299.7TBX5, GATA4
12regulation of atrial cardiac muscle cell membrane repolarizationGO:0603729.7SCN5A, KCNQ1
13atrioventricular valve morphogenesisGO:0031819.6GATA4, TBX5
14endocardial cushion developmentGO:0031979.6GATA4, TBX5
15heart loopingGO:0019479.6GATA4, NKX2-5
16ventricular septum developmentGO:0032819.5GATA4, TBX5
17positive regulation of cardioblast differentiationGO:0518919.5GATA4, TBX5, NKX2-5
18atrial septum morphogenesisGO:0604139.5GATA4, TBX5, NKX2-5
19positive regulation of cardiac muscle cell proliferationGO:0600459.4GATA4, TBX5
20regulation of membrane repolarizationGO:0603069.4KCNH2, KCNE2, KCNQ1
21cellular response to drugGO:0356909.3KCNQ1, KCNE2, KCNH2
22membrane repolarization during cardiac muscle cell action potentialGO:0860139.3KCNH2, KCNE1, KCNQ1
23positive regulation of potassium ion transmembrane transportGO:19013819.3KCNQ1, KCNE1, KCNH2
24cardiac muscle contractionGO:0600489.2KCNH2, KCNQ1, SCN5A, NKX2-5
25regulation of heart contractionGO:0080169.2DES, KCNQ1
26membrane repolarization during action potentialGO:0860119.0KCNQ1, KCNE2, KCNE1, KCNH2
27potassium ion exportGO:0714359.0KCNH2, KCNE1, KCNE2, KCNQ1
28potassium ion transmembrane transportGO:0718059.0KCNH2, KCNE1, KCNE2, KCNQ1
29cellular response to cAMPGO:0713208.9KCNQ1, KCNE1
30male gonad developmentGO:0085848.9KCNE1, KCNQ1, GATA4
31regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603078.8SCN5A, KCNQ1, KCNE2, KCNE1, KCNH2
32ventricular cardiac muscle cell action potentialGO:0860058.8KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
33regulation of heart rate by cardiac conductionGO:0860918.8KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A

Molecular functions related to Atrioventricular Block according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1inward rectifier potassium channel activityGO:00524210.0KCNH2, KCNE2
2scaffold protein bindingGO:0971109.5SCN5A, KCNQ1
3voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:0860089.4KCNQ1, KCNE1
4potassium channel regulator activityGO:0154599.4KCNE2, KCNE1
5RNA polymerase II regulatory region sequence-specific DNA bindingGO:0009779.3GATA4, TBX5
6ion channel bindingGO:0443259.2KCNE2, KCNQ1, SCN5A
7voltage-gated potassium channel activityGO:0052499.2KCNH2, KCNE1, KCNQ1
8transcription factor bindingGO:0081349.1GATA4, TBX5, NKX2-5
9voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:19022828.9KCNQ1, KCNE2, KCNE1, KCNH2
10delayed rectifier potassium channel activityGO:0052518.9KCNQ1, KCNE2, KCNE1, KCNH2
11protein homodimerization activityGO:0428038.8KCNH2, KCNE2, KCNQ1, NKX2-5
12protein bindingGO:0055156.8DES, KCNH2, KCNE1, KCNQ1, SCN5A, LMNA

Products for genes affiliated with Atrioventricular Block

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3CDC
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